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January 26, 2026Journal of Human Immunity0 citationsOpen Access

Autoinflammatory disease and severe neutropenia due to de novo variant of PSTPIP1 with increased binding to pyrin

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SCSarah A. CookKNKranthi NomulaCCClaire E. Cross

Key Points

  • To investigate a de novo N236K mutation in PSTPIP1 and its association with severe neutropenia and autoinflammatory disease.
  • Identified a novel N236K mutation in PSTPIP1 in a patient
  • Analyzed binding affinity to pyrin
  • Examined changes in blood transcriptome among PAMI patients with N236K and E250K mutations
  • The N236K mutation showed increased binding to pyrin
  • Enhanced inflammasome formation observed
  • Distinct blood transcriptome changes identified in patients with both mutations

Abstract

Cook et al. report a novel de novo heterozygous N236K mutation in PSTPIP1, identified in a patient with neonatal-onset PAMI that was ultimately fatal. The N236K mutation showed increased binding to pyrin and enhanced inflammasome formation. The authors also identify blood transcriptome changes in PAMI patients with both N236K and the more common E250K mutation.

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Cite This Study

Cook et al. (2026) studied this question.

synapsesocial.com/papers/6977032e722626c4468e845fhttps://doi.org/10.70962/jhi.20250201
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